Triple negative breast cancer in patient with BRCA2 mutation- clinical case

Abstract

Background. Triple-negative breast cancer (TNBC) is an aggressive biological subtype of breast cancer (BC), with an incidence of about 10-15% of all BC. It frequently develops in women under 40 years of age, with a mortality in the first 5 years of about 40%. Lack of ER, PR and HER2 receptors limits hormone therapy. Objective(s). To present the clinical case of a patient diagnosed in 2023 with right-sided BC, T2N0M0, stage IIA, TNBC, BRCA2, highlighting the genetic implications of the disease and the selected treatment. Materials and methods. Anamnestic, clinical, paraclinical and treatment data were collected from the patient's medical documentation. The information was used to highlight the clinico-paraclinical and genetic features of the disease. The chosen therapeutic strategy was analyzed in the context of scientific articles published in PubMed and Google Scholar databases. Results. The patient, 44 years old, had a lump in her right breast. Mammography- BI-RADS 4 lesion, MRI- neoplasm (33mm) in the lower lateral quadrant of the right breast, genetic test- BRCA2 mutation. The biopsy submitted to histopathologic and immunohistochemical examination indicated: invasive ductal carcinoma G3, ER-0%, PR-0%, HER2-negative, Ki67- 80%. Paraclinically- no distant metastases (Mt). Neoadjuvant polychemotherapy was initiated with complete pathologic response. Surgery followed in 2024: mastectomy with sentinel lymph node biopsy (nr.2- no Mt), followed by prophylactic bilateral adnexectomy (BRCA2). Dynamically evaluated, no signs of progression. Conclusion(s). Cytotoxic chemotherapy and mastectomy remain the standard therapeutic strategy in TNBC. At the same time there is no unanimously accepted decision on prophylactic adnexectomy in BRCA2-positive TNBC. This particularity requires an individualized approach for personalized treatment design.